ClinVar Miner

List of variants reported by Cytogenetics- Mohapatra Lab, Banaras Hindu University

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ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.689+3825G>C rs3740345 0.66820
NM_007078.3(LDB3):c.859+47G>C rs3740346 0.13647
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_001200.4(BMP2):c.109T>G (p.Ser37Ala) rs2273073 0.02358
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001719.3(BMP7):c.962A>G (p.Asn321Ser) rs61733438 0.00277
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_001719.3(BMP7):c.945G>A (p.Met315Ile) rs183792918 0.00011
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_001719.3(BMP7):c.847G>A (p.Ala283Thr) rs560540219 0.00004
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr) rs864321699 0.00001
NM_001719.3(BMP7):c.523C>T (p.Arg175Trp) rs1476787716 0.00001
NM_007078.3(LDB3):c.2146C>T (p.Pro716Ser) rs1847527818 0.00001
NM_000363.5(TNNI3):c.79C>T (p.Arg27Cys) rs1555864366
NM_001077415.3(CRELD1):c.1049-401C>A
NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)
NM_001077415.3(CRELD1):c.587G>T (p.Gly196Val)
NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)
NM_001200.4(BMP2):c.1052C>G (p.Ser351Cys)
NM_001200.4(BMP2):c.721A>T (p.Lys241Ter)
NM_001200.4(BMP2):c.962A>T (p.His321Leu)
NM_001200.4(BMP2):c.982G>A (p.Glu328Lys)
NM_001267052.2(UNC45B):c.1456C>T (p.Leu486Phe) rs2142567239
NM_001267550.2(TTN):c.106552C>T (p.Gln35518Ter)
NM_001267550.2(TTN):c.37735G>A (p.Ala12579Thr) rs74176588
NM_001267550.2(TTN):c.49891_49892insA (p.Ala16631fs)
NM_001267550.2(TTN):c.61448G>A (p.Arg20483His)
NM_001267550.2(TTN):c.78089_78090insC (p.Lys26030fs)
NM_001308093.3(GATA4):c.1000+2T>G rs864321705
NM_001308093.3(GATA4):c.1266C>T (p.Ser422=) rs864321704
NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp) rs864321698
NM_001308093.3(GATA4):c.27C>A (p.Ala9=) rs864321703
NM_001308093.3(GATA4):c.383A>T (p.Glu128Val) rs864321700
NM_001308093.3(GATA4):c.397A>T (p.Ser133Cys) rs864321701
NM_001308093.3(GATA4):c.685T>A (p.Trp229Arg) rs864321702
NM_001349338.3(FOXP1):c.1778C>A (p.Pro593His) rs2034683194
NM_001719.3(BMP7):c.254A>T (p.Asp85Val) rs2146036001
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003238.6(TGFB2):c.1012C>A (p.Pro338Thr) rs2102630084
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) rs963128995
NM_003476.5(CSRP3):c.354G>A (p.Glu118=) rs876657767
NM_003476.5(CSRP3):c.420G>C (p.Trp140Cys) rs1565050320
NM_003476.5(CSRP3):c.46A>T (p.Thr16Ser) rs1565053147
NM_003476.5(CSRP3):c.96G>A (p.Lys32=) rs1565053085
NM_004302.5(ACVR1B):c.912G>A (p.Met304Ile) rs2120691810
NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly) rs864321650
NM_004387.4(NKX2-5):c.335-12G>A rs864321646
NM_004387.4(NKX2-5):c.335-1G>T rs864321645
NM_004387.4(NKX2-5):c.335-20G>A rs864321647
NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys) rs864321648
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) rs864321649
NM_007078.3(LDB3):c.*30C>G rs1847531002
NM_007078.3(LDB3):c.1041C>A (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1167C>T (p.Ala389=) rs768844187
NM_007078.3(LDB3):c.1213C>A (p.Pro405Thr) rs1846584122
NM_007078.3(LDB3):c.1723T>A (p.Phe575Ile) rs1846937833
NM_007078.3(LDB3):c.1818T>A (p.Phe606Leu) rs1846942383
NM_007078.3(LDB3):c.690-4571A>C rs111941601
NM_007078.3(LDB3):c.692G>T (p.Ser231Ile) rs1845780199
NM_007078.3(LDB3):c.693C>A (p.Ser231Arg) rs1845780303
NM_007078.3(LDB3):c.718G>A (p.Asp240Asn) rs959113234
NM_007078.3(LDB3):c.859+81G>A rs1845795580
NM_007078.3(LDB3):c.896+11G>A rs1845818201
NM_007078.3(LDB3):c.896+86G>A rs1845822049
NM_012294.5(RAPGEF5):c.2431C>T (p.His811Tyr) rs2128099721
NM_012340.5(NFATC2):c.*71T>G rs377609235
NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys) rs2116916386
NM_016358.3(IRX4):c.572C>T (p.Thr191Ile)
NM_016358.3(IRX4):c.71G>A (p.Ser24Asn)
NM_182961.4(SYNE1):c.2444T>C (p.Ile815Thr) rs769963625

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